C0022578[trait identifier] AND "Refractive Surgery Department, Bright - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 459803	NM_000302.4(PLOD1):c.109G>A (p.Glu37Lys)	PLOD1 (E37K +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2445997	NM_001039753.4(EML6):c.2528G>T (p.Trp843Leu)	EML6 (W843L)	Single nucleotide variant (missense variant)	Keratoconus	GUncertain significance
Select item 2577487	NM_000393.5(COL5A2):c.4364G>A (p.Gly1455Glu)	COL5A2 (G1455E)	Single nucleotide variant (missense variant)	Keratoconus	GLikely pathogenic
Select item 2445999	NM_015175.3(NBEAL2):c.7878+2T>A	NBEAL2	Single nucleotide variant (splice donor variant)	Keratoconus	GUncertain significance
Select item 2430291	NM_000368.5(TSC1):c.622A>G (p.Ser208Gly)	TSC1 (S157G +2 more)	Single nucleotide variant (missense variant)	Keratoconus	GLikely pathogenic
Select item 2577488	NM_001845.6(COL4A1):c.976G>A (p.Gly326Ser)	COL4A1 (G326S)	Single nucleotide variant (missense variant)	Keratoconus	GLikely pathogenic
Select item 2445980	NM_000875.5(IGF1R):c.1447G>A (p.Gly483Arg)	IGF1R (G483R)	Single nucleotide variant (missense variant)	Keratoconus	GUncertain significance
Select item 2442791	NM_000691.5(ALDH3A1):c.703G>A (p.Gly235Arg)	ALDH3A1 (G162R +1 more)	Single nucleotide variant (missense variant)	Keratoconus	GLikely pathogenic
Select item 225320	NM_000088.4(COL1A1):c.3766G>A (p.Ala1256Thr)	COL1A1 (A1256T)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, arthrochalasia type +8 more	GConflicting classifications of pathogenicity
Select item 2445998	NM_001320714.2(DOP1B):c.1227_1228del (p.Gln410fs)	DOP1B (Q410fs)	Deletion (frameshift variant)	Keratoconus	GUncertain significance